Research Topics
| J J PittSummaryAffiliation: University of Melbourne Country: Australia Publications
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Detail Information
Publications
Transient 5-oxoprolinuria and high anion gap metabolic acidosis: clinical and biochemical findings in eleven subjectsJ J Pitt
Department of Clinical Biochemistry, Royal Children s Hospital, Parkville, Australia
Clin Chem 44:1497-503. 1998..These findings suggest that acetaminophen, in association with other unidentified factors, is involved in the development of this condition through a mechanism of depletion of liver glutathione stores...- 3-Hydroxyglutarate excretion is increased in ketotic patients: implications for glutaryl-CoA dehydrogenase deficiency testingJ Pitt
Victorian Clinical Genetics Services, Murdoch Children s Research Institute, Parkville, Australia
J Inherit Metab Dis 25:83-8. 2002..01), and with those of a child with confirmed GDHD when she was both ketotic and nonketotic. Secondary increase in 3-hydroxyglutarate excretion during ketosis is a potential confounder in the diagnosis of GDHD... - Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometryJames J Pitt
Genetic Health Services Victoria, Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville 3052, Australia
Clin Chem 48:1970-80. 2002..Detection of abnormal metabolites in urine is important for the diagnosis of many inborn errors of metabolism (IEM). Rapid, comprehensive screening methods are needed... - VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysisA Boneh
Metabolic Service and Newborn Screening Laboratory, Genetic Health Services Victoria, Melbourne, Australia
Mol Genet Metab 88:166-70. 2006..In view of the emerging genotype-phenotype correlation in this disorder, the information derived from mutational analysis can be helpful in designing the appropriate follow-up and therapeutic regime for these patients... - Fasting medium chain acyl-coenzyme A dehydrogenase--deficient children can make ketonesJ M Fletcher
Murdoch Institute and Department of Clinical Biochemistry, Royal Children's Hospital, Parkville, Victoria, Australia
Metabolism 50:161-5. 2001..We propose that another factor, such as fever, may be required to reduce ketone production and result in the biochemical phenotype recognized in unwell children... - Episodes of severe metabolic acidosis in a patient with 3-methylglutaconic aciduriaE A Haan
Murdoch Institute for Research into Birth Defects, Royal Children s Hospital, Parkville, Vic, Australia
Eur J Pediatr 146:484-8. 1987..In vitro studies suggest that in this patient, as in the majority of other patients with 3-methylglutaconic aciduria, a primary defect in leucine metabolism is not responsible for the biochemical abnormality... - Diagnosis of 21-hydroxylase deficiency in newborn infants by GC-MS of urinary steroidsA B Yong
Department of Clinical Biochemistry, Royal Children s Hospital, Parkville, Victoria, Australia
Aust Paediatr J 24:280-5. 1988..This does not preclude the possibility that a minority of patients with CAH, most likely those with mild 21-hydroxylase deficiency, may not exhibit the characteristic GC-MS findings on day 1, as seen in one of the 16 CAH patients... - Pseudo-glutarylcarnitinaemia in medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screeningN Napolitano
Genetic Health Services Victoria, Murdoch Children's Research Institute, Parkville, Vic. 3052, Australia
J Inherit Metab Dis 27:465-71. 2004..These results indicated that the abnormal carnitines were significantly elevated only during periods of increased fatty acid catabolism, as may occur in the immediate postnatal period...